Association of genetic variations in the STAT4 and IRF7/KIAA1542 regions with systemic lupus erythematosus in a Northern Han Chinese population

Li, Ping; Cao, Chunwei; Luan, Haixia; Li, Chaohua; Hu, Chao; Zhang, Shulan; Zeng, Xiaofeng; Zhang, Fengchun; Zeng, Changqing; Li, Yongzhe

doi:10.1016/j.humimm.2010.12.011

Cited by 31 publications

(26 citation statements)

References 36 publications

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“…Moreover, the contribution of STAT4 G > C (rs7582694) or STAT4 G > T (rs7574865) SNPs to the production of double-stranded DNA autoantibodies has been found in Swedish and American Europeans [11, 12, 33]. The STAT4 G > T (rs7574865) SNP has also been associated with antiphospholipid syndrome in Italian cohorts [34], as has the production of anti-Sm antibodies in a Northern Han Chinese population [15]. Additionally, other STAT4 SNPs were correlated with lupus nephritis, arthritis, and the production of anti-SSA/B autoantibodies in a Northern Han Chinese population [15].…”

Section: Discussionmentioning

confidence: 99%

Contribution of STAT4 gene single-nucleotide polymorphism to systemic lupus erythematosus in the Polish population

et al. 2012

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The STAT4 has been found to be a susceptible gene in the development of systemic lupus erythematosus (SLE) in various populations. There are evident population differences in the context of clinical manifestations of SLE, therefore we investigated the prevalence of the STAT4 G > C (rs7582694) polymorphism in patients with SLE (n = 253) and controls (n = 521) in a sample of the Polish population. We found that patients with the STAT4 C/G and CC genotypes exhibited a 1.583-fold increased risk of SLE incidence (95 % CI = 1.168–2.145, p = 0.003), with OR for the C/C versus C/G and G/G genotypes was 1.967 (95 % CI = 1.152–3.358, p = 0.0119). The OR for the STAT4 C allele frequency showed a 1.539-fold increased risk of SLE (95 % CI = 1.209–1.959, p = 0.0004). We also observed an increased frequency of STAT4 C/C and C/G genotypes in SLE patients with renal symptoms OR = 2.259 (1.365–3.738, p = 0.0014), (p corr = 0.0238) and in SLE patients with neurologic manifestations OR = 2.867 (1.467–5.604, p = 0.0016), (p corr = 0.0272). Moreover, we found a contribution of STAT4 C/C and C/G genotypes to the presence of the anti-snRNP Ab OR = 3.237 (1.667–6.288, p = 0.0003), (p corr = 0.0051) and the presence of the anti-Scl-70 Ab OR = 2.665 (1.380–5.147, p = 0.0028), (p corr = 0.0476). Our studies confirmed an association of the STAT4 C (rs7582694) variant with the development of SLE and occurrence of some clinical manifestations of the disease.Electronic supplementary materialThe online version of this article (doi:10.1007/s11033-012-1752-3) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Contribution of STAT4 gene single-nucleotide polymorphism to systemic lupus erythematosus in the Polish population

et al. 2012

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“…In particular, the rs4963128 was associated with the production of anti-SSA/B antibodies and lupus nephritis. The authors suggest that particular variants of the IRF7/ KIAA1542 region may induce the generation of certain autoantibodies [32]. A recent small study of 190 Chinese patients with lupus nephritis reported a significant association of the rs2004640 polymorphism of the interferon-regulatory factor 5 ( IRF5 ) gene with lupus nephritis but showed no association with any specific histological or clinical manifestation of lupus kidney disease [40].…”

Section: Type I Ifn and Lupus Nephritismentioning

confidence: 99%

Activation of Type I Interferon Pathway in Systemic Lupus Erythematosus: Association with Distinct Clinical Phenotypes

Karageorgas

Tseronis

Mavragani

2011

BioMed Research International

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Growing evidence over the last few years suggests a central role of type I IFN pathway in the pathogenesis of systemic autoimmune disorders. Data from clinical and genetic studies in patients with systemic lupus erythematosus (SLE) and lupus-prone mouse models, indicates that the type I interferon system may play a pivotal role in the pathogenesis of several lupus and associated clinical features, such as nephritis, neuropsychiatric and cutaneous lupus, premature atherosclerosis as well as lupus-specific autoantibodies particularly against ribonucleoproteins. In the current paper, our aim is to summarize the latest findings supporting the association of type I IFN pathway with specific clinical manifestations in the setting of SLE providing insights on the potential use of type I IFN as a therapeutic target.

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“…IRF5 2,25,26 and IRF7 2,25 polymorphisms are associated with LN. Particular genetic variants of these IRFs are associated with the presence of anti-dsDNA 27 and increased type I IFN activity levels, 28 which may contribute to LN.…”

Section: Extrarenal Etiologymentioning

confidence: 96%

“…The gene encoding STAT4 is perhaps the most noted IFNAR-mediated signaling protein associated with LN. 2,25,26 LN is also genetically associated with IKZF1 , which encodes the Ikaros family zinc finger 1 transcription factor that enhances STAT4 signaling. 61 …”

Section: Extrarenal Etiologymentioning

confidence: 99%

Genetics of Lupus Nephritis: Clinical Implications

Munroe

James

2015

Seminars in Nephrology

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Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease marked by the presence of pathogenic autoantibodies, immune dysregulation, and chronic inflammation that may lead to increased morbidity and early mortality from end-organ damage. Over half of all SLE patients will develop lupus nephritis. Genetic association studies have identified more than fifty polymorphisms that contribute to lupus nephritis pathogenesis, including genetic variants associated with altered programmed cell death (PCD) and defective immune clearance of PCD debris. These variants may support the generation of autoantibody-containing immune complexes that contribute to lupus nephritis. Genetic variants associated with lupus nephritis also affect the initial phase of innate immunity and the amplifying, adaptive phase of the immune response. Finally, genetic variants associated with the kidney-specific effector response may influence end-organ damage and the progression to end-stage renal disease and death. This review discusses genetic insights of key pathogenic processes and pathways that may lead to lupus nephritis, as well as the clinical implications of these findings as they apply to recent advances in biologic therapies.

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Association of genetic variations in the STAT4 and IRF7/KIAA1542 regions with systemic lupus erythematosus in a Northern Han Chinese population

Cited by 31 publications

References 36 publications

Contribution of STAT4 gene single-nucleotide polymorphism to systemic lupus erythematosus in the Polish population

Contribution of STAT4 gene single-nucleotide polymorphism to systemic lupus erythematosus in the Polish population

Activation of Type I Interferon Pathway in Systemic Lupus Erythematosus: Association with Distinct Clinical Phenotypes

Genetics of Lupus Nephritis: Clinical Implications

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